Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: Evidence for a Founder Effect in Patients of British Descent

Gavin Lucas, Lynne Hocking, Anna Daroszewska, T. Cundy, G. C. Nicholson, J. P. Walsh, W. D. Fraser, C. Meier, M. J. Hooper, S Ralston

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Abstract

Mutations in the UBA domain of SQSTM1 are a common cause of Paget's disease of bone. Here we show that the most common disease-causing mutation (P392L) is carried on a shared haplotype, consistent with a founder effect and a common ancestral origin.

Original languageEnglish
Pages (from-to)227-231
Number of pages5
JournalJournal of Bone and Mineral Research
Volume20
Issue number2
Early online date16 Nov 2004
DOIs
Publication statusPublished - Feb 2005

Keywords

  • Paget's disease of bone
  • genetic
  • SQSTM1
  • haplotype
  • founder effect
  • genetic-heterogeneity
  • familial aggregation
  • chromosome 18Q
  • identification
  • Netherlands
  • prevalence
  • linkage
  • loci

Cite this

Lucas, G., Hocking, L., Daroszewska, A., Cundy, T., Nicholson, G. C., Walsh, J. P., Fraser, W. D., Meier, C., Hooper, M. J., & Ralston, S. (2005). Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: Evidence for a Founder Effect in Patients of British Descent. Journal of Bone and Mineral Research, 20(2), 227-231. https://doi.org/10.1359/JBMR.041106